Electroencephalography, Magnetic Resonance Imaging and Response to Treatment in Children with Focal Seizures A Prospective Cohort Study.

Objectives: This study aimed to evaluate patients with focal seizures, their clinical manifestations, and their response to treatment, then compared the accuracy of electroencephalography and Magnetic Resonance Imaging (MRI) to assess the cost-effectiveness of the latter.

Materials & Methods: After selecting the appropriate individuals, the authors obtained the data by clinically evaluating the cases and interviewing them or their caretaker(s) on admission and the six-month follow-up visit. The researchers then analyzed the obtained data.

Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature.

Background: Primary deficiency of coenzyme Q deficiency-4 (CoQD4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia.

Case Report: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.

A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene.

Cerebrotendinous xanthomatosis () is a rare hereditary disease described by a mutation in the , which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the symptoms of this disease. In addition, a mutation in the , which encodes a subunit of conserved oligomeric Golgi (COG) complex, causes another rare disorder attributed to type IIh of congenital disorder of glycosylation ().

A novel variant of Paganini-Miozzo syndrome: a case report.

Paganini-Miozzo syndrome (MRXSPM) is a rare neurogenetic disorder that is transmitted by X-linked recessive inheritance. This is the third case reported of this disease in the world with a novel variant. A boy was referred due to the absence of neck holding and hand tremors.

An unusual case of a toddler with Canavan disease with frequent intractable seizures: A case report and review of the literature.

Canavan disease is a rare fetal inherited leukodystrophy, caused by accumulation of N-acetyl-aspartate in the brain. Here, we report a child presented with frequent intractable seizures and visual impairment. A 14-month-old female infant with a complaint of the absence of neck holding and generalized tonic-clonic seizures was referred to our hospital.

Cerebrovascular accident in a child with precursor B-cell acute lymphoblastic leukemia and coronavirus disease 2019: a case report.

Background: Coronavirus disease 2019 can lead to rare but severe and life-threatening diseases in susceptible high-risk populations, including patients with immunodeficiency. A rare event in this report is stroke following COVID-19 disease in a patient with an immunocompromised background due to leukemia and anti-cancer treatments.

Case Presentation: A 6-year-old iranian girl with precursor B-cell leukemia receiving vincristine therapy presented with fever and absolute neutrophil count < 500.

Epidemiology of Guillain-Barré Syndrome in Iranian Children Aged 0-15 Years (2008-2013).

Objective: Guillain-Barré Syndrome (GBS) is an acute inflammatory polyneuropathy characterized by a rapid progressive symmetric weakness. The GBS is the most common cause of acute flaccid paralysis (AFP) in most parts of the world. This study was carried out to investigate the epidemiological features of GBS in Iranian children.

The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family.

Objective: Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder.

Materials & Methods: The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study.

The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients.

Objective: Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency.

Materials & Methods: Eighteen patients diagnosed as metachromatic leukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2010 and 2014 were included in our study. The disorder was confirmed by clinical, EMG-NCV, arylsulfatase A enzyme checking and neuroimaging findings along with neurometabolic and genetic assessment from reference laboratory in Iran.

The Clinical Features and Diagnosis of Canavan's Disease: A Case Series of Iranian Patients.

Objective: Canavan's disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical features especially in the non-Ashkenazi Jewish population.

Material & Methods: 45 patients were referred to the Pediatric Neurology Department of Mofid Children's Hospital in Tehran-Iran from 2010-2014 with a chief complaint of neuro developmental delays, seizures, and neuroimaging findings of leukodystrophy were included in this study.

Relationship between migraine and abnormal EEG findings in children.

Objective: Migraine is a disabling illness that causes absence from school and affects the quality of life. It has been stated that headache may represent an epileptic event. EEG abnormality is a prominent finding in children with migraine.